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A case of erythrokeratoderma variabilis without mutations in connexin 31

✍ Scribed by A. Ishida-Yamamoto; D. Kelsell; J. Common; M.J. Houseman; M. Hashimoto; H. Shibaki; K. Asano; H. Takahashi; Y. Hashimoto; T. Senshu; I.M. Leigh; H. Iizuka


Book ID
104459644
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
527 KB
Volume
143
Category
Article
ISSN
0007-0963

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Implication of mutations in Connexin 31
✍ Eugene A. Chu; Anand N. Mhatre; Lawrence R. Lustig; Anil K. Lalwani πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 249 KB πŸ‘ 1 views

Mutations in the gene of the gap junction protein Connexin 31 (CX31; other connexin 1 Laboratory of Molecular genes abbreviated by CX+#, i.e. Connexin 30 = CX30) have been demonstrated to be Otology, Epstein Laboratories, responsible for both autosomal dominant and recessive nonsyndromic hereditary